FHCL4
MCID: HYP840
MIFTS: 46

Hypercholesterolemia, Familial, 4 (FHCL4)

Categories: Blood diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Metabolic diseases, Muscle diseases, Rare diseases, Skin diseases

Aliases & Classifications for Hypercholesterolemia, Familial, 4

MalaCards integrated aliases for Hypercholesterolemia, Familial, 4:

Name: Hypercholesterolemia, Familial, 4 57
Hypercholesterolemia, Autosomal Recessive 57 74 29 55 6
Arh 57 12 74
Hypercholesterolemia, Familial, Autosomal Recessive 13 40
Familial Autosomal Recessive Hypercholesterolemia 12 37
Autosomal Recessive Hypercholesterolemia 1 12 74
Autosomal Recessive Hypercholesterolemia 2 12 74
Autosomal Recessive Hypercholesterolemia 12 15
Fhcb1 12 74
Fhcb2 12 74
Arh1 12 74
Arh2 12 74
Hypercholesterolemia, Autosomal Recessive, 1, Formerly; Arh1, Formerly 57
Hypercholesterolemia, Autosomal Recessive, 2, Formerly; Arh2, Formerly 57
Hypercholesterolemia, Autosomal Recessive, 1, Formerly 57
Hypercholesterolemia, Autosomal Recessive, 2, Formerly 57
Hypercholesterolemia, Autosomal Recessive; Arh 57
Fhcb1, Formerly 57
Fhcb2, Formerly 57
Arh1, Formerly 57
Arh2, Formerly 57
Fhcl4 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hypercholesterolemia, familial, 4:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090105
KEGG 37 H01918
MeSH 44 D006937
ICD10 33 E78.0
MedGen 42 C1863512

Summaries for Hypercholesterolemia, Familial, 4

KEGG : 37
Autosomal recessive hypercholesterolemia (ARH) is a rare disorder characterized by elevated low-density lipoprotein (LDL) serum levels, xanthomatosis, and premature coronary artery disease. Several dyslipidemias have been identified which lead to severe primary hypercholesterolemia. Among them, ARH is characterized by clinical symptoms and plasma cholesterol levels intermediate between those found in heterozygous and homozygous familial hypercholesterolemia (FH) [DS:H00155] individuals. ARH patients develop symptomatic coronary artery disease later in life and their xanthomas tend to be large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors accumulate on the cell membrane. In general, ARH patients show a better response to lipid-lowering therapy than the FH patients, and they rarely require LDL apheresis.

MalaCards based summary : Hypercholesterolemia, Familial, 4, also known as hypercholesterolemia, autosomal recessive, is related to homozygous familial hypercholesterolemia and xanthomatosis. An important gene associated with Hypercholesterolemia, Familial, 4 is LDLRAP1 (Low Density Lipoprotein Receptor Adaptor Protein 1), and among its related pathways/superpathways are Endocytosis and Neuroscience. Affiliated tissues include liver, and related phenotypes are hypercholesterolemia and hypertriglyceridemia

Disease Ontology : 12 A familial hypercholesterolemia that is characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease, and has material basis in autosomal recessive homozygous mutation in the low density lipoprotein receptor adaptor protein 1 gene (LDLRAP1) on chromosome 1p36.

OMIM : 57 Autosomal recessive familial hypercholesterolemia-4 (FCHL4) is a rare monogenic disease characterized by very high levels of low-density lipoprotein (LDL) cholesterol (usually above 400 mg/dl) and increased risk of premature atherosclerotic cardiovascular disease (summary by Sanchez-Hernandez et al., 2018). (603813)

UniProtKB/Swiss-Prot : 74 Hypercholesterolemia, autosomal recessive: A familial condition characterized by elevated circulating cholesterol contained in either low-density lipoproteins alone or also in very- low-density lipoproteins.

Related Diseases for Hypercholesterolemia, Familial, 4

Diseases in the Rare Hypercholesterolemia family:

Hypercholesterolemia, Familial, 1 Hypercholesterolemia, Familial, 2
Hypercholesterolemia, Familial, 3 Hypercholesterolemia, Familial, 4
Familial Hypercholesterolemia

Diseases related to Hypercholesterolemia, Familial, 4 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 32)
# Related Disease Score Top Affiliating Genes
1 homozygous familial hypercholesterolemia 30.8 PCSK9 LDLRAP1 LDLR
2 xanthomatosis 30.3 LDLRAP1 LDLR
3 defective apolipoprotein b-100 10.4 PCSK9 LDLR
4 sea-blue histiocyte disease 10.4 PCSK9 LDLR
5 arcus corneae 10.3 PCSK9 LDLRAP1 LDLR
6 atherosclerosis susceptibility 10.3
7 classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 10.2 POMC LEP
8 hypercholesterolemia, familial, 1 10.2
9 familial hypercholesterolemia 10.2
10 sick building syndrome 10.1 POMC LEP
11 arts syndrome 10.1
12 cholesterol level quantitative trait locus 1 10.1
13 asbestosis 10.1
14 cholera 10.1
15 hypokalemia 10.1
16 asbestos intoxication 10.1
17 adrenal insufficiency, congenital, with 46,xy sex reversal, partial or complete 10.1 POMC FDXR
18 lipid metabolism disorder 10.1
19 eating disorder 10.0 POMC NPY LEP
20 lysosomal acid lipase deficiency 9.9
21 aortic valve disease 2 9.9
22 cholesterol ester storage disease 9.9
23 fatty liver disease 9.9
24 coronary heart disease 1 9.9
25 acquired metabolic disease 9.9 POMC NPY LEP
26 pain agnosia 9.9 POMC OPRL1
27 overnutrition 9.8 POMC NPY LEP AGRP
28 anorexia nervosa 9.8 POMC NPY LEP AGRP
29 alcohol dependence 9.7 POMC OPRL1 NPY
30 prader-willi syndrome 9.7 POMC NPY LEP AGRP
31 agnosia 9.7 POMC OPRL1
32 body mass index quantitative trait locus 11 9.5 POMC NPY LEP LDLR AGRP

Graphical network of the top 20 diseases related to Hypercholesterolemia, Familial, 4:



Diseases related to Hypercholesterolemia, Familial, 4

Symptoms & Phenotypes for Hypercholesterolemia, Familial, 4

Human phenotypes related to Hypercholesterolemia, Familial, 4:

32
# Description HPO Frequency HPO Source Accession
1 hypercholesterolemia 32 obligate (100%) HP:0003124
2 hypertriglyceridemia 32 HP:0002155
3 atherosclerosis 32 HP:0002621
4 tendon xanthomatosis 32 HP:0010874
5 increased vldl cholesterol concentration 32 HP:0003362

Symptoms via clinical synopsis from OMIM:

57
Laboratory Abnormalities:
hypertriglyceridemia
very high low-density lipoprotein (ldl) cholesterol (>400 mg/dl)
high total cholesterol (>600 mg/dl)

Skin Nails Hair Skin:
xanthomas

Clinical features from OMIM:

603813

GenomeRNAi Phenotypes related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 8.8 LDLR LDLRAP1 PCSK9

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial, 4:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.91 AGRP FDXR LDLR LEP NPY OPRL1
2 homeostasis/metabolism MP:0005376 9.9 AGRP DAB2 LDLR LDLRAP1 LEP NPY
3 adipose tissue MP:0005375 9.72 AGRP LDLR LEP NPY POMC
4 liver/biliary system MP:0005370 9.43 AGRP LDLR LEP NPY PCSK9 POMC
5 normal MP:0002873 9.17 AGRP CD79B LDLR NPY OPRL1 PRNP

Drugs & Therapeutics for Hypercholesterolemia, Familial, 4

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 BioHoFH - Biomarker for Homozygous Familial Hypercholesterolemia AN INTERNATIONAL, MULTICENTER, EPIDEMIOLOGICAL PROTOCOL Recruiting NCT03198897

Search NIH Clinical Center for Hypercholesterolemia, Familial, 4

Genetic Tests for Hypercholesterolemia, Familial, 4

Genetic tests related to Hypercholesterolemia, Familial, 4:

# Genetic test Affiliating Genes
1 Hypercholesterolemia, Autosomal Recessive 29 LDLRAP1

Anatomical Context for Hypercholesterolemia, Familial, 4

MalaCards organs/tissues related to Hypercholesterolemia, Familial, 4:

41
Liver

Publications for Hypercholesterolemia, Familial, 4

Articles related to Hypercholesterolemia, Familial, 4:

(show all 33)
# Title Authors PMID Year
1
A novel ARH splice site mutation in a Mexican kindred with autosomal recessive hypercholesterolemia. 9 8 71
15599766 2005
2
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein. 9 8 71
11326085 2001
3
Autosomal recessive hypercholesterolemia in Spain. 8 71
29245109 2018
4
Clinical features and genetic analysis of autosomal recessive hypercholesterolemia. 8 71
12788851 2003
5
Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia. 8 71
12016260 2002
6
Autosomal recessive hypercholesterolaemia in Sardinia, Italy, and mutations in ARH: a clinical and molecular genetic analysis. 8 71
11897284 2002
7
Severe hypercholesterolaemia: unusual inheritance in an Italian pedigree. 8 71
7628519 1995
8
Experiences with the homozygous cases of familial hypercholesterolemia. A report of 52 patients. 8 71
4351242 1973
9
Autosomal recessive hypercholesterolemia in Spanish kindred due to a large deletion in the ARH gene. 9 8
17686643 2007
10
Disruption of LDL but not VLDL clearance in autosomal recessive hypercholesterolemia. 8
17200716 2007
11
A splice mutation in a Syrian autosomal recessive hypercholesterolemia family causes a two-nucleotide deletion of mRNA. 71
12958143 2003
12
Use of homozygosity mapping to identify a region on chromosome 1 bearing a defective gene that causes autosomal recessive homozygous hypercholesterolemia in two unrelated families. 8
11179013 2001
13
A new locus for autosomal recessive hypercholesterolemia maps to human chromosome 15q25-q26. 8
10677305 2000
14
Characterization of a novel cellular defect in patients with phenotypic homozygous familial hypercholesterolemia. 8
10487776 1999
15
Evidence for a third genetic locus causing familial hypercholesterolemia. A non-LDLR, non-APOB kindred. 8
10357843 1999
16
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. 8
10073989 1999
17
Delayed low density lipoprotein (LDL) catabolism despite a functional intact LDL-apolipoprotein B particle and LDL-receptor in a subject with clinical homozygous familial hypercholesterolemia. 8
9626156 1998
18
Comparison of the genetic defect with LDL-receptor activity in cultured cells from patients with a clinical diagnosis of heterozygous familial hypercholesterolemia. The Familial Hypercholesterolaemia Regression Study Group. 8
9409298 1997
19
Aortic stenosis in homozygous familial hypercholesterolaemia. 8
8774336 1996
20
Clinical and biochemical characterisation of patients with autosomal recessive hypercholesterolemia (ARH). 9 38
14717060 2003
21
A novel class of antihyperlipidemic agents with low density lipoprotein receptor up-regulation via the adaptor protein autosomal recessive hypercholesterolemia. 9
20356098 2010
22
Prevalence and clinical features of heterozygous carriers of autosomal recessive hypercholesterolemia in Sardinia. 9
19477448 2009
23
The endocytic adaptor protein ARH associates with motor and centrosomal proteins and is involved in centrosome assembly and cytokinesis. 9
18417616 2008
24
Secreted PCSK9 downregulates low density lipoprotein receptor through receptor-mediated endocytosis. 9
17449864 2007
25
Secreted PCSK9 decreases the number of LDL receptors in hepatocytes and in livers of parabiotic mice. 9
17080197 2006
26
LDL-receptor mutations in Europe. 9
15523646 2004
27
Polarized distribution of mRNAs encoding a putative LDL receptor adaptor protein, xARH (autosomal recessive hypercholesterolemia) in Xenopus oocytes. 9
15327785 2004
28
Disruption of autosomal recessive hypercholesterolemia gene shows different phenotype in vitro and in vivo. 9
15472122 2004
29
Xenopus autosomal recessive hypercholesterolemia protein couples lipoprotein receptors with the AP-2 complex in oocytes and embryos and is required for vitellogenesis. 9
12944396 2003
30
Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders. 9
15030301 2003
31
Molecular mechanisms of autosomal recessive hypercholesterolemia. 9
12642779 2003
32
Autosomal recessive hypercholesterolemia in a Sicilian kindred harboring the 432insA mutation of the ARH gene. 9
12535754 2003
33
Restoration of LDL receptor function in cells from patients with autosomal recessive hypercholesterolemia by retroviral expression of ARH1. 9
12464675 2002

Variations for Hypercholesterolemia, Familial, 4

ClinVar genetic disease variations for Hypercholesterolemia, Familial, 4:

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 LDLRAP1 NM_015627.2(LDLRAP1): c.71del (p.Gly24fs) deletion Pathogenic rs1201229554 1:25870260-25870260 1:25543769-25543769
2 LDLRAP1 NM_015627.2(LDLRAP1): c.653C> T (p.Thr218Ile) single nucleotide variant Pathogenic rs114583297 1:25890188-25890188 1:25563697-25563697
3 LDLRAP1 NM_015627.2(LDLRAP1): c.863C> T (p.Ser288Leu) single nucleotide variant Pathogenic rs753151497 1:25893419-25893419 1:25566928-25566928
4 LDLRAP1 NM_015627.2(LDLRAP1): c.65G> A (p.Trp22Ter) single nucleotide variant Pathogenic rs121908324 1:25870254-25870254 1:25543763-25543763
5 LDLRAP1 NM_015627.2(LDLRAP1): c.432_433insA (p.Ala145fs) insertion Pathogenic 1:25883731-25883732 1:25557240-25557241
6 LDLRAP1 NM_015627.2(LDLRAP1): c.406C> T (p.Gln136Ter) single nucleotide variant Pathogenic rs121908325 1:25883705-25883705 1:25557214-25557214
7 LDLRAP1 NM_015627.2(LDLRAP1): c.74dup (p.Gly26fs) duplication Pathogenic rs1553170279 1:25870263-25870263 1:25543772-25543772
8 LDLRAP1 NM_015627.2(LDLRAP1): c.89-1G> C single nucleotide variant Pathogenic rs755104973 1:25880412-25880412 1:25553921-25553921
9 LDLRAP1 NM_015627.2(LDLRAP1): c.459+2T> G single nucleotide variant Pathogenic rs1461905374 1:25883760-25883760 1:25557269-25557269
10 LDLRAP1 NM_015627.2(LDLRAP1): c.603dup (p.Ser202fs) duplication Pathogenic rs781585299 1:25889631-25889631 1:25563140-25563140
11 LDLRAP1 NM_015627.2(LDLRAP1): c.431dup (p.His144fs) duplication Pathogenic 1:25883730-25883730 1:25557239-25557239
12 LDLRAP1 NM_015627.2(LDLRAP1): c.201G> A (p.Ser67=) single nucleotide variant Conflicting interpretations of pathogenicity rs747011377 1:25880525-25880525 1:25554034-25554034
13 LDLRAP1 NM_015627.2(LDLRAP1): c.396C> T (p.Ile132=) single nucleotide variant Conflicting interpretations of pathogenicity rs369497122 1:25883695-25883695 1:25557204-25557204
14 LDLRAP1 NM_015627.2(LDLRAP1): c.712C> T (p.Arg238Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs41291058 1:25890247-25890247 1:25563756-25563756
15 LDLRAP1 NM_015627.2(LDLRAP1): c.672C> T (p.Ser224=) single nucleotide variant Conflicting interpretations of pathogenicity rs41291054 1:25890207-25890207 1:25563716-25563716
16 LDLRAP1 NM_015627.2(LDLRAP1): c.907G> A (p.Asp303Asn) single nucleotide variant Uncertain significance rs199605881 1:25893463-25893463 1:25566972-25566972
17 LDLRAP1 NM_015627.2(LDLRAP1): c.284G> A (p.Arg95Gln) single nucleotide variant Uncertain significance rs139877665 1:25881403-25881403 1:25554912-25554912
18 LDLRAP1 NM_015627.2(LDLRAP1): c.451C> T (p.Arg151Trp) single nucleotide variant Uncertain significance rs148916767 1:25883750-25883750 1:25557259-25557259
19 LDLRAP1 NM_015627.2(LDLRAP1): c.487C> T (p.Gln163Ter) single nucleotide variant Uncertain significance rs1057515537 1:25889162-25889162 1:25562671-25562671
20 LDLRAP1 NM_015627.2(LDLRAP1): c.115C> T (p.Arg39Trp) single nucleotide variant Uncertain significance rs201179339 1:25880439-25880439 1:25553948-25553948
21 LDLRAP1 NM_015627.2(LDLRAP1): c.122C> T (p.Thr41Met) single nucleotide variant Uncertain significance 1:25880446-25880446 1:25553955-25553955
22 LDLRAP1 NM_015627.2(LDLRAP1): c.227C> G (p.Ala76Gly) single nucleotide variant Uncertain significance 1:25880551-25880551 1:25554060-25554060
23 LDLRAP1 NM_015627.2(LDLRAP1): c.397G> A (p.Ala133Thr) single nucleotide variant Uncertain significance 1:25883696-25883696 1:25557205-25557205
24 LDLRAP1 NM_015627.2(LDLRAP1): c.235A> G (p.Lys79Glu) single nucleotide variant Uncertain significance 1:25881354-25881354 1:25554863-25554863
25 LDLRAP1 NM_015627.2(LDLRAP1): c.842T> C (p.Met281Thr) single nucleotide variant Uncertain significance 1:25893398-25893398 1:25566907-25566907
26 LDLRAP1 NM_015627.2(LDLRAP1): c.344+4C> T single nucleotide variant Uncertain significance 1:25881467-25881467 1:25554976-25554976
27 LDLRAP1 NM_015627.2(LDLRAP1): c.34A> G (p.Ile12Val) single nucleotide variant Uncertain significance 1:25870223-25870223 1:25543732-25543732
28 LDLRAP1 NM_015627.2(LDLRAP1): c.626C> T (p.Thr209Ile) single nucleotide variant Uncertain significance rs141522360 1:25890161-25890161 1:25563670-25563670
29 LDLRAP1 NM_015627.2(LDLRAP1): c.604_605delinsCA (p.Ser202His) indel Uncertain significance rs386629678 1:25889632-25889633 1:25563141-25563142
30 LDLRAP1 NM_015627.2(LDLRAP1): c.605C> A (p.Ser202Tyr) single nucleotide variant Uncertain significance rs121908326 1:25889633-25889633 1:25563142-25563142
31 LDLRAP1 NM_015627.2(LDLRAP1): c.675G> A (p.Thr225=) single nucleotide variant Uncertain significance 1:25890210-25890210 1:25563719-25563719
32 LDLRAP1 NM_015627.2(LDLRAP1): c.710C> T (p.Pro237Leu) single nucleotide variant Uncertain significance 1:25890245-25890245 1:25563754-25563754
33 LDLRAP1 NM_015627.2(LDLRAP1): c.906G> A (p.Gln302=) single nucleotide variant Likely benign rs777827146 1:25893462-25893462 1:25566971-25566971
34 LDLRAP1 NM_015627.2(LDLRAP1): c.713G> A (p.Arg238Gln) single nucleotide variant Likely benign rs148579379 1:25890248-25890248 1:25563757-25563757
35 LDLRAP1 NM_015627.2(LDLRAP1): c.849C> T (p.Tyr283=) single nucleotide variant Likely benign rs147242385 1:25893405-25893405 1:25566914-25566914
36 LDLRAP1 NM_015627.2(LDLRAP1): c.666G> A (p.Pro222=) single nucleotide variant Likely benign rs1247328221 1:25890201-25890201 1:25563710-25563710
37 LDLRAP1 NM_015627.2(LDLRAP1): c.870C> T (p.Val290=) single nucleotide variant Likely benign rs200433841 1:25893426-25893426 1:25566935-25566935
38 LDLRAP1 NM_015627.2(LDLRAP1): c.711G> A (p.Pro237=) single nucleotide variant Likely benign rs112914959 1:25890246-25890246 1:25563755-25563755
39 LDLRAP1 NM_015627.2(LDLRAP1): c.603_604delinsTC (p.Ser202Pro) indel Likely benign rs1060504131 1:25889631-25889632 1:25563140-25563141
40 LDLRAP1 NM_015627.2(LDLRAP1): c.432C> T (p.His144=) single nucleotide variant Benign rs200840583 1:25883731-25883731 1:25557240-25557240
41 LDLRAP1 NM_015627.2(LDLRAP1): c.653_654inv (p.Thr218Met) inversion Benign 1:25890188-25890189 1:25563697-25563698
42 LDLRAP1 NM_015627.2(LDLRAP1): c.654A> G (p.Thr218=) single nucleotide variant Benign rs28969504 1:25890189-25890189 1:25563698-25563698

UniProtKB/Swiss-Prot genetic disease variations for Hypercholesterolemia, Familial, 4:

74
# Symbol AA change Variation ID SNP ID
1 LDLRAP1 p.Ser202His VAR_023320 rs386629678

Expression for Hypercholesterolemia, Familial, 4

Search GEO for disease gene expression data for Hypercholesterolemia, Familial, 4.

Pathways for Hypercholesterolemia, Familial, 4

Pathways related to Hypercholesterolemia, Familial, 4 according to KEGG:

37
# Name Kegg Source Accession
1 Endocytosis hsa04144

GO Terms for Hypercholesterolemia, Familial, 4

Cellular components related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 9.63 PRNP PCSK9 NPY LDLR CD79B AGRP
2 endolysosome membrane GO:0036020 8.96 PCSK9 LDLR
3 PCSK9-LDLR complex GO:1990666 8.62 PCSK9 LDLR

Biological processes related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 lipid metabolic process GO:0006629 9.88 PCSK9 LEP LDLRAP1 LDLR FDXR
2 receptor-mediated endocytosis GO:0006898 9.77 LDLRAP1 LDLR DAB2
3 endocytosis GO:0006897 9.75 LDLRAP1 LDLR DAB2
4 membrane organization GO:0061024 9.71 LDLRAP1 LDLR DAB2
5 cholesterol homeostasis GO:0042632 9.67 PCSK9 LDLRAP1 LDLR
6 steroid metabolic process GO:0008202 9.67 PCSK9 LDLRAP1 LDLR FDXR
7 regulation of blood pressure GO:0008217 9.63 POMC NPY LEP
8 long-term memory GO:0007616 9.59 PRNP LDLR
9 feeding behavior GO:0007631 9.58 NPY AGRP
10 cholesterol transport GO:0030301 9.57 LDLRAP1 LDLR
11 lipoprotein metabolic process GO:0042157 9.55 PCSK9 LDLR
12 ubiquinone biosynthetic process GO:0006744 9.52 PDSS1 FDXR
13 central nervous system neuron development GO:0021954 9.51 NPY LEP
14 eating behavior GO:0042755 9.5 OPRL1 LEP AGRP
15 low-density lipoprotein particle clearance GO:0034383 9.43 PCSK9 LDLRAP1 LDLR
16 receptor-mediated endocytosis involved in cholesterol transport GO:0090118 9.4 LDLRAP1 LDLR
17 neuropeptide signaling pathway GO:0007218 9.35 TAC3 POMC OPRL1 NPY AGRP
18 adult feeding behavior GO:0008343 9.33 NPY LEP AGRP
19 positive regulation of endocytosis GO:0045807 9.26 DAB2
20 regulation of signaling receptor activity GO:0010469 9.13 PCSK9
21 cholesterol metabolic process GO:0008203 9.02 PCSK9 LEP LDLRAP1 LDLR FDXR

Molecular functions related to Hypercholesterolemia, Familial, 4 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 hormone activity GO:0005179 9.43 POMC NPY LEP
2 neuropeptide hormone activity GO:0005184 9.4 NPY AGRP
3 low-density lipoprotein particle receptor binding GO:0050750 9.37 PCSK9 LDLRAP1
4 low-density lipoprotein particle binding GO:0030169 9.32 PCSK9 LDLR
5 clathrin adaptor activity GO:0035615 9.16 LDLRAP1 DAB2
6 amyloid-beta binding GO:0001540 9.13 PRNP LDLRAP1 LDLR
7 signaling receptor binding GO:0005102 9.02 TAC3 POMC NPY LEP AGRP

Sources for Hypercholesterolemia, Familial, 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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